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Bulharská rodina s epileptickými záchvaty jako prvním projevem familiárních cerebrálních kavernózních malformací


Authors: M. Peycheva 1;  E. Viteva 1;  A. Trenova 1;  O. Chaneva 1;  Z. Zahariev 1;  E. Tournier-Lasserve 2;  F. Riant 2
Authors‘ workplace: Department of Neurology, Medical University of Plovdiv, Bulgaria 1;  Service de génétique moleculaire neuro-vasculaire, Hôpital Lariboisière, Paris, France 2
Published in: Cesk Slov Neurol N 2018; 81(6): 709-711
Category: Letters to Editor
doi: https://doi.org/10.14735/amcsnn2018709

Overview

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Sources

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2. Labauge P, Laberge S, Brunereau L et al. Genetics of cavernous angiomas. Lancet Neurol 2007; 6(3): 237–244. doi: 10.1016/S1474-4422(07)70053-4.

3. Denier C, Labauge P, Brunereau L et al. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Ann Neurol 2004; 55(2): 213–220. doi: 10.1002/ana.10804.

4. Battistini S, Rocchi R, Cerase A et al. Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation. Arch Neurol 2007; 64(6): 843–848. doi: 10.1001/archneur.64.6.843.

5. Verlaan DJ, Davenport WJ, Stefan H et al. Cerebral cavernous malformations: mutations in Krit-1. Neurology 2002; 58(6): 853–857.

6. Fischer A, Zalvide J, Faurobert E et al. Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis. Trends Mol Med 2013; 19(5): 302–308. doi: 10.1016/j.molmed.2013.02.004.

7. Spiegler S, Rath M, Hof­fjan S et al. First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. Neurogenetics 2018; 19(1): 55–59. doi: 10.1007/s10048-017-0531-7.

8. Mespreuve M, Vanhoenacker F, Lem­merl­­ing M. Familial multiple cavernous malformation syndrome: MR features in this uncom­mon but silent threat. J Belg Soc Radiol 2016; 100(1): 51. doi: 10.5334/jbr-btr.938.

9. Faure M, Voormolen M, Van der Zijden T et al. Develop­mental venous anomaly: MR and angiografic features. JBR-BTR 2014; 97(1): 17–20.

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Labels
Paediatric neurology Neurosurgery Neurology

Article was published in

Czech and Slovak Neurology and Neurosurgery

Issue 6

2018 Issue 6

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